Varaico: Literature-Extracted Genetic Variants

EGFR

13,423 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR ...

Pfam Domains

Recep_L_domainaa 57–144UCSCReceptor L domain

Recep_L_domainaa 57–168UCSCReceptor L domain

Furin-likeaa 177–338UCSCFurin-like cysteine rich region

Recep_L_domainaa 308–428UCSCReceptor L domain

GF_recep_IVaa 452–584UCSCGrowth factor receptor domain IV

TM_ErbB1aa 593–628UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

Gene Aliases

HGNC Name

epidermal growth factor receptor

HGNC Alias Symbols

ERBB1; ERRP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005228.5

p.K739R

c.2216A>G

Surrounding Variants

1 paper

NM_005228.5

p.K739_K745insFs

c.2217_2235dup19

1 paper

NM_005228.5

p.K739I

c.2216A>T

2 papers

NM_005228.5

p.I740_K745ins2

c.2218_2235dup18

1 paper

NM_005228.5

p.K739insFs

c.2215_2216ins19

3 papers

NM_005228.5

p.K739Q

c.2215A>C

2 papers

NM_005228.5

p.K739N

c.2217A>C

2 papers

NM_005228.5

p.K739N

c.2217A>T

4 papers

NM_005228.5

p.I740_E746ins2

c.2219_2236dup18

5 papers

NM_005228.5

p.I740V

c.2218A>G

2 papers

NM_005228.5

p.I740F

c.2218A>T

1 paper

NM_005228.5

p.I740delFs

c.2220delT

1 paper

NM_005228.5

p.V738V

c.2214T>A